UniProt | Protein Name |
---|---|
O00468 |
|
GO Term | Evidence Code | PMID |
---|---|---|
G protein-coupled acetylcholine receptor signaling pathway |
|
|
cytoskeleton organization | ||
positive regulation of transcription by RNA polymerase II | ||
positive regulation of synaptic assembly at neuromuscular junction | ||
synapse organization |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region |
|
|
Golgi lumen |
|
|
basement membrane | ||
synapse | ||
plasma membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
dystroglycan binding | ||
laminin binding |
|
|
chondroitin sulfate binding | ||
calcium ion binding | ||
heparan sulfate proteoglycan binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050848 | obstructive sleep apnea | |
DOID:0060249 | scoliosis | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 | |
DOID:0110039 | Alzheimer's disease 7 | |
DOID:0110041 | Alzheimer's disease 8 |
HPO ID | HPO Term |
---|---|
HP:0003701 | Proximal muscle weakness |
HP:0003722 | Neck flexor weakness |
HP:0003803 | Type 1 muscle fiber predominance |
HP:0004661 | Frontalis muscle weakness |
HP:0004885 | Episodic respiratory distress |
HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness |
HP:0005659 | Thoracic kyphoscoliosis |
HP:0005943 | Respiratory arrest |
HP:0007178 | Motor polyneuropathy |
HP:0008443 | Neuropathic spinal arthropathy |
Disease ID | Disease Name |
---|---|
ORPHA:98913 |
|
ORPHA:98914 |
|
OMIM:615120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
3565243 | WB:WBGene00018304 | ||
103187444 | CALMI36764 | ||
565373 | ZFIN:ZDB-GENE-030131-1033 | DANRE23955 | |
115166082 | SALTR86027 | ||
115168970 | SALTR75277 | ||
109196113 | ORENI38708 | ||
115584465 | SPAAU52529 | ||
108696525 | Xenbase:XB-GENE-6488235 | ||
108697619 | Xenbase:XB-GENE-17345505 | ||
100492176 | Xenbase:XB-GENE-953967 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024